Hostname: page-component-586b7cd67f-2plfb Total loading time: 0 Render date: 2024-11-23T11:19:55.887Z Has data issue: false hasContentIssue false

Rayleigh matches in carriers of inherited color vision defects: The contribution from the third L/M photopigment

Published online by Cambridge University Press:  03 July 2008

YANG SUN*
Affiliation:
Department of Psychology, University of Chicago, Chicago, Illinois
STEVEN K. SHEVELL
Affiliation:
Department of Psychology, University of Chicago, Chicago, Illinois Department of Ophthalmology and Visual Science, University of Chicago, Chicago, Illinois
*
Address correspondence and reprint requests to: Yang Sun, Visual Science Laboratories, University of Chicago, 940 East 57thStreet, Chicago, IL 60637. E-mail: [email protected]

Abstract

The mother or daughter of a male with an X-chromosome-linked red/green color defect is an obligate carrier of the color deficient gene array. According to the Lyonization hypothesis, a female carrier's defective gene is expressed and thus carriers may have more than two types of pigments in the L/M photopigment range. An open question is how a carrier's third cone pigment in the L/M range affects the postreceptoral neural signals encoding color. Here, a model considered how the signal from the third pigment pools with signals from the normal's two pigments in the L/M range. Three alternative assumptions were considered for the signal from the third cone pigment: it pools with the signal from (1) L cones, (2) M cones, or (3) both types of cones. Spectral-sensitivity peak, optical density, and the relative number of each cone type were factors in the model. The model showed that differences in Rayleigh matches among carriers can be due to individual differences in the number of the third type of L/M cone, and the spectral sensitivity peak and optical density of the third L/M pigment; surprisingly, however, individual differences in the cone ratio of the other two cone types (one L and the other M) did not affect the match. The predicted matches were compared to Schmidt's (1934/1955) report of carriers' Rayleigh matches. For carriers of either protanomaly or deuteranomaly, these matches were not consistent with the signal from the third L/M pigment combining with only the signal from M cones. The matches could be accounted for by pooling the third-pigment's response with L-cone signals, either exclusively or randomly with M-cone responses as well.

Type
Research Article
Copyright
Copyright © Cambridge University Press 2008

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

REFERENCES

Asenjo, A.B., Rim, J. & Oprian, D.D. (1994). Molecular determinants of human red/green color discrimination. Neuron 12, 11311138.CrossRefGoogle ScholarPubMed
Burns, S. & Elsner, A. (1985). Color matching at high illuminance: The color-match-area-effect and photopigment bleaching. Journal of the Optical Society America A 2, 698704.CrossRefGoogle ScholarPubMed
Carroll, J., Neitz, J. & Neitz, M. (2002). Estimates of L:M cone ratio from ERG flicker photometry and genetics. Journal of Vision 2, 531542.CrossRefGoogle ScholarPubMed
Crone, R.A. (1959). Spectral sensitivity in color-defective subjects and heterozygous carriers. American Journal of Ophthalmology 48, 231238.CrossRefGoogle ScholarPubMed
Deeb, S.S., Lindsey, D.T., Hibiya, Y., Sanocki, E., Winderickx, J., Teller, D.Y. & Motulsky, A.G. (1992). Genotype-phenotype relationships in human red/green color-vision defects: Molecular and psychophysical studies. American Journal of Human Genetics 51, 687700.Google ScholarPubMed
DeMarco, P., Pokorny, J. & Smith, V.C. (1992). Full-spectrum cone sensitivity functions for X-chromosome-linked anomalous trichromats. Journal of the Optical Society of America A 9, 14651476.CrossRefGoogle ScholarPubMed
Drummond-Borg, M., Deeb, S.S. & Motulsky, A.G. (1989). Molecular patterns of X chromosome-linked color vision genes among 134 men of European Ancestry. Proceedings of the National Academy of Sciences 86, 983987.CrossRefGoogle ScholarPubMed
He, J.C. & Shevell, S.K (1995). Variation in color matching and discrimination among deuteranomalous trichromats: Theoretical implications of small differences in photopigments. Vision Research 35, 25792588.CrossRefGoogle ScholarPubMed
Hofer, H., Carroll, J., Neitz, J., Neitz, M. & Williams, D.R. (2005). Organization of the human trichromatic cone mosaic. Journal of Neuroscience 25, 96699679.CrossRefGoogle ScholarPubMed
Jordan, G. & Mollon, J.D. (1993). A study of women heterozygous for colour deficiencies. Vision Research 33, 14951508.Google Scholar
Lyon, M.F. (1961). Gene action in the X-chromosome of the mouse (Mus musculus L.). Nature 190, 372373.CrossRefGoogle ScholarPubMed
Merbs, S.L. & Nathans, J. (1992). Absorption spectra of the hybrid pigments responsible for anomalous color vision. Science 258, 464466.CrossRefGoogle ScholarPubMed
Nagy, A.L., MacLeod, D.I.A., Heyneman, N.E. & Eisner, A. (1981). Four cone pigments in women heterozygous for color deficiency. Journal of the Optical Society of America A 71, 719722.CrossRefGoogle ScholarPubMed
Nathans, J., Thomas, D. & Hogness, D.S. (1986). Molecular genetics of human color vision: The genes encoding blue, green, and red pigments. Science 232, 193202.CrossRefGoogle ScholarPubMed
Neitz, M. & Neitz, J. (1995). Numbers and ratios of visual pigment genes for normal red-green color vision. Science 267, 10131016.CrossRefGoogle ScholarPubMed
Neitz, M., Neitz, J. & Grishok, A. (1995). Polymorphism in the number of genes encoding long-wavelength-sensitive cone pigments among males with normal color vision. Vision Research 35, 23952407.CrossRefGoogle ScholarPubMed
Pickford, R.W. (1967). Variability and consistency in the manifestation of red-green colour vision defects. Vision Research 7, 6577.CrossRefGoogle ScholarPubMed
Pokorny, J. & Smith, V.C. (1990). Color matching as a clinical tool: Theory of modification by disease. In International Research Group on Color Vision Deficiencies. Symposium (1990, Tokyo, Japan), pp. 255267. The Netherlands: Kugler & Ghedini.Google Scholar
Rayleigh, L. (1881). Experiments on colour. Nature 25, 6466.Google Scholar
Roorda, A., Metha, A.B., Lennie, P. & Williams, D.R. (2001). Packing arrangement of the three cone classes in primate retina. Vision Research 41, 12911306.CrossRefGoogle ScholarPubMed
Roorda, A. & Williams, D.R. (1999). The arrangement of the three cone classes in the living human eye. Nature 397, 520522.CrossRefGoogle ScholarPubMed
Schmidt, I. (1934). Üeber manifeste Heterozygotie bei konduktorinner für Farbensinnstörungen. Klinische Monatsblätter für Augenheikunde 92, 456467Google Scholar
Schmidt, I. (1955). A sign of manifest heterozygosity in carriers of color deficiency. American Journal of Optometry 32, 404408.CrossRefGoogle ScholarPubMed
Sharpe, L.T., Stockman, A., Jägle, H., Knau, H., Klausen, G., Reitner, A. & Nathans, J. (1998). Red, green, and red-green hybrid pigments in the human retina: correlations between deduced protein sequences and psychophysically measured spectral sensitivities. Journal of Neuroscience 18, 1005310069.CrossRefGoogle ScholarPubMed
Sjoberg, S.A., Neitz, M., Balding, S.D. & Neitz, J. (1998). L-cone pigment genes expressed in normal colour vision. Vision Research 38, 32133219.CrossRefGoogle ScholarPubMed
Thomas, P.B.M. & Mollon, J.D. (2004). Modelling the Rayleigh match. Visual Neuroscience 21, 477482.CrossRefGoogle ScholarPubMed
Verriest, G. (1972). Chromaticity discrimination in protan and deutan heterozygotes. Die Farbe 21, 716.Google Scholar
Wald, G. (1965). Frequency or wavelength. Science 150, 12391240.CrossRefGoogle ScholarPubMed
Wyszecki, G., Stiles, W.S. (1967). Color Science: Concepts and Methods, Quantitative Data and Formulae. New York: John Wiley and Sons.Google Scholar